Variant report

Variant	rs11627269
Chromosome Location	chr14:79714572-79714573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1184263	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs12432262	0.87[ASW][hapmap];0.92[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12882688	0.96[CEU][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12882872	0.80[AMR][1000 genomes]
rs12884217	0.91[CEU][hapmap];0.86[CHB][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs12888606	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1868635	0.87[ASW][hapmap];0.88[CEU][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes]
rs2122434	0.81[CHD][hapmap]
rs2218786	0.85[CHB][hapmap]
rs2219846	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[TSI][hapmap]
rs4359363	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4899737	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs4899738	0.87[CEU][hapmap];0.86[CHB][hapmap];0.85[TSI][hapmap]
rs56711325	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61995413	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7153957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7161543	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap]
rs7492515	0.88[CEU][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1047433	chr14:79673222-79723628	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv528346	chr14:79683956-79747251	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1052541	chr14:79689336-79723628	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79712600-79715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:79714200-79715400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:79714400-79715000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:79714400-79715400	Enhancers	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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